Autosomal dominant hereditary disorder	Congenital anomaly of the kidney	Congenital hearing disorder	Developmental hereditary disorder	Developmental malformation of branchial arch	Hereditary hearing loss	Hereditary nephropathy	Multiple malformation syndrome with facial defects as major feature
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Melnick-Fraser syndrome (disorder)
	Melnick-Fraser syndrome
	Branchio-oto-renal syndrome BOR syndrome

Id	290006
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Kidney structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of auditory system
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Associated morphology	Morphologically abnormal structure
Finding site	Branchial arch structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Global Patient Set

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified